Linked Data
dbSNP Id:
rs3838786
gnomAD v3:
11-6390705-T-TGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC
gnomAD v4:
11-6390705-T-TGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390712_6390741dup , CM000673.2:g.6390712_6390741dup | GRCh38 |
| NC_000011.9:g.6411942_6411971dup , CM000673.1:g.6411942_6411971dup | GRCh37 |
| NC_000011.8:g.6368518_6368547dup | NCBI36 |
| NG_011780.1:g.5288_5317dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.114_143dup MANE Select | ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeu... | |
| ENST00000342245.8:c.114_143dup | ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeu... | |
| ENST00000527275.5:c.114_143dup | ENSP00000435350.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeu... | |
| ENST00000530395.1:c.-96+73_-96+102dup | ENSP00000431479.1:n.-96+73_-96+102dup | |
| ENST00000531303.5:c.114_143dup | ENSP00000432625.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeu... | |
| ENST00000533123.5:c.114_143dup | ENSP00000435950.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeu... | |
| ENST00000533196.1:n.273_302dup | ||
| ENST00000534405.5:c.114_143dup | ENSP00000434353.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeu... | |
| NM_000543.4:c.114_143dup | NP_000534.3:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla | |
| NM_001007593.2:c.114_143dup | NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| XM_005253075.3:c.114_143dup | XP_005253132.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| XM_011520303.1:c.114_143dup | XP_011518605.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| XM_011520304.1:c.114_143dup | XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| XR_930886.1:n.412_441dup | ||
| NM_001318087.1:c.114_143dup | NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| NM_001318088.1:c.-848_-819dup | NP_001305017.1:n.-848_-819dup | |
| NM_001365135.1:c.114_143dup | NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| NR_027400.2:n.299_328dup | ||
| NR_134502.1:n.299_328dup | ||
| XM_011520304.2:c.114_143dup | XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| XR_001747940.2:n.239_268dup | ||
| XR_002957158.1:n.239_268dup | ||
| NM_000543.5:c.114_143dup MANE Select | NP_000534.3:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla | |
| NM_001007593.3:c.114_143dup | NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| NM_001318087.2:c.114_143dup | NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| NM_001318088.2:c.-848_-819dup | NP_001305017.1:n.-848_-819dup | |
| NM_001365135.2:c.114_143dup | NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuAlaLeuAlaLeuAlaLeuAla... | |
| NR_027400.3:n.239_268dup | ||
| NR_134502.2:n.239_268dup |